Document Detail

Genetics of intracranial aneurysms.
MedLine Citation:
PMID:  9092838     Owner:  NLM     Status:  MEDLINE    
The etiology and pathogenesis of intracranial aneurysms are clearly multifactorial, with genetic factors playing an increasingly recognized role. Intracranial aneurysms have been associated with numerous heritable connective tissue disorders, which account for at least 5% of cases. Of these disorders, the most important are Ehlers-Danlos syndrome Type IV, Marfan's syndrome, neurofibromatosis Type 1, and autosomal dominant polycystic kidney disease; the association with intracranial aneurysms, however, has been firmly established only for polycystic kidney disease. Familial intracranial aneurysms are not rare but account for 7 to 20% of patients with aneurysmal subarachnoid hemorrhage and are generally not associated with any of the known heritable connective tissue disorders. First-degree relatives of patients with aneurysmal subarachnoid hemorrhage are at an approximately fourfold increased risk of suffering ruptured intracranial aneurysms, compared to the general population. Various possible modes of inheritance have been identified in families with intracranial aneurysms, suggesting genetic heterogeneity. Although the benefits have never been quantified, screening for asymptomatic intracranial aneurysms should be considered in families with two or more affected members. The yield of such a screening program may approximate 10%. Although it is unlikely that there is a single gene with major effect, much effort is currently being directed at locating intracranial aneurysm genes.
W I Schievink
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Neurosurgery     Volume:  40     ISSN:  0148-396X     ISO Abbreviation:  Neurosurgery     Publication Date:  1997 Apr 
Date Detail:
Created Date:  1997-07-01     Completed Date:  1997-07-01     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7802914     Medline TA:  Neurosurgery     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  651-62; discussion 662-3     Citation Subset:  IM    
Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA.
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MeSH Terms
Connective Tissue Diseases / complications*,  epidemiology,  genetics
Diseases in Twins
Ehlers-Danlos Syndrome / complications,  epidemiology,  genetics
Genetic Heterogeneity
Genetic Testing
Intracranial Aneurysm / epidemiology,  etiology,  genetics*,  prevention & control
Marfan Syndrome / complications,  epidemiology,  genetics
Neurofibromatosis 1 / complications,  epidemiology,  genetics
Polycystic Kidney, Autosomal Dominant / complications,  epidemiology,  genetics
Subarachnoid Hemorrhage / epidemiology,  etiology,  genetics

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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